Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731
FBXO11 Q86XK2 F-box protein 11 Enzyme 1.00 0.604 0.692
MUTYH Q9UIF7 mutY DNA glycosylase Enzyme 1.3E-18 0.521 0.769
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808
CDH1 P12830 cadherin 1 0.15 0.401 0.808
CYTB P00156 cytochrome b 0.529 0.808
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538
TRNE tRNA 0.647 0.692